Tricho-Hepato-Enteric Syndrome (THE) is a rare congenital bowel disorder characterized by intractable diarrhea in infants with intrauterine growth retardation, hair and facial abnormalities.
Hello, i appreaciate you all sharing stories and info to help eachother out. If any one is able/willing to message me to discuss their experiences a little more in depth and offer any tips i will be forever greatful. I hope all of your little ones are still thriving
Hi ShariDHaz It is good to find others in the same situation, helps to not feel alone in the situation. Not sure if you saw in my previous post about my grandsons facebook page. My daughter set it up to help keep family and friends up to date on his progress. If you would like to look its under his name...Blake Jonathan Edward Bowman. He is booked in for another procedure soon to have a tube go directly into the intestine as he has chronic vomitting and they are at a loss as to how to stop it. They put a shunt in his head to take away pressure there in the hope that would be the prob and although it did relieve pressure it didnt help the vomitting.
The teams that discovered the gene are in Europe. There were competing teams in France & England looking for the gene. Both teams had our DNA because we had two hospitals working with us. They found the gene at basically the same time. I do know that our geneticist confirmed the diagnosis himself in his lab before telling us so it could likely be done elsewhere if they knew what they were looking for. We are in Canada as I said above. Luckily the tests are covered here. It is exciting for us to connect with other families. If you are interested in sharing details & stories, email me (email@example.com). I'm all for raising awareness but some things are too personal to publish on the internet.:-) Our daughter is 5.5 & her best weight had been 14.3 kg but she is down to 13.7 kg or so because she loses every time she is sick.
|SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome||
Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this lead was not investigated in initial studies. The Ski complex is a multiprotein complex required for exosome-mediated RNA surveillance, including the regulation of normal mRNA and the decay of nonfunctional mRNA. Considering the fact that TTC37 is homologous to Ski3p, we explored a gene encoding another Ski-complex cofactor, SKIV2L, in six individuals presenting with typical syndromic diarrhea without variation in TTC37. We identified mutations in all six individuals. Our results show that mutations in genes encoding cofactors of the human Ski complex cause syndromic diarrhea, establishing a link between defects of the human exosome complex and a Mendelian disease.
|Syndromic diarrhea/Tricho-hepato-enteric syndrome||
Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. The estimated prevalence is 1/1,000,000 births and the transmission is autosomal recessive. The classical form is characterized by 5 clinical signs: intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent forehead and cheeks, broad nasal root and hypertelorism; hair abnormalities described as woolly and easily removable; immune disorders resulting from defective antibody production; intrauterine growth restriction. The aetiology is a defect in TTC37, a TPR containing protein, or in the RNA helicase SKIV2L, both constituting the putative human ski complex. The ski complex is a heterotetrameric cofactor of the cytoplasmic RNA exosome which ensures aberrants mRNAs decay. The diagnosis SD/THE is initially based on clinical findings and confirmed by direct sequencing of TTC37 and SKIV2L. Differential diagnosis with the other causes of intractable diarrhea is easily performed by pathologic investigations. During their clinical course, most of the children require parenteral nutrition and often immunoglobulin supplementation. With time, some of them can be weaned off parenteral nutrition and immunoglobulin supplementation. The prognosis depends on the management and is largely related to the occurrence of parenteral nutrition complications or infections. Even with optimal management, most of the children seem to experience failure to thrive and final short stature. Mild mental retardation is observed in half of the cases.
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